ClinVar

NM_000527.5(LDLR):c.2055G>A (p.Pro685=)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11120437 (on Assembly GRCh38)
• Chr19: 11231113 (on Assembly GRCh37)

Preferred name:

NM_000527.5(LDLR):c.2055G>A (p.Pro685=)

HGVS:

• NC_000019.10:g.11120437G>A
• NG_009060.1:g.36057G>A
• NM_000527.5:c.2055G>AMANE SELECT
• NM_001195798.2:c.2055G>A
• NM_001195799.2:c.1932G>A
• NM_001195800.2:c.1551G>A
• NM_001195803.2:c.1606+204G>A
• NP_000518.1:p.Pro685=
• NP_000518.1:p.Pro685=
• NP_001182727.1:p.Pro685=
• NP_001182728.1:p.Pro644=
• NP_001182729.1:p.Pro517=
• LRG_274t1:c.2055G>A
• LRG_274:g.36057G>A
• LRG_274p1:p.Pro685=
• NC_000019.9:g.11231113G>A
• NM_000527.4:c.2055G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149126953

NCBI 1000 Genomes Browser:

rs149126953

Molecular consequence:

• NM_001195803.2:c.1606+204G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_000527.5:c.2055G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195798.2:c.2055G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195799.2:c.1932G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001195800.2:c.1551G>A - synonymous variant - [Sequence Ontology: SO:0001819]